Linked Data
ClinVar Variation Id:
331089
dbSNP Id:
rs145830873
ExAC:
2:128047304 G / A
gnomAD v2:
2-128047304-G-A
gnomAD v3:
2-127289728-G-A
gnomAD v4:
2-127289728-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127289728G>A , CM000664.2:g.127289728G>A | GRCh38 |
| NC_000002.11:g.128047304G>A , CM000664.1:g.128047304G>A | GRCh37 |
| NC_000002.10:g.127763774G>A | NCBI36 |
| NG_007454.1:g.9449C>T , LRG_462:g.9449C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.618C>T MANE Select | ENSP00000285398.2:p.Ala206= | |
| ENST00000642308.1:c.*658C>T | ENSP00000496684.1:n.*658C>T | |
| ENST00000643982.1:n.215C>T | ||
| ENST00000644317.1:c.*107C>T | ENSP00000494012.1:n.*107C>T | |
| ENST00000645233.1:c.*830C>T | ENSP00000494116.1:n.*830C>T | |
| ENST00000645467.1:c.618C>T | ENSP00000494889.1:p.Ala206= | |
| ENST00000645736.1:c.474C>T | ENSP00000494545.1:p.Ala158= | |
| ENST00000646042.1:n.1166C>T | ||
| ENST00000646654.1:c.*85C>T | ENSP00000494526.1:n.*85C>T | |
| ENST00000647169.1:c.618C>T | ENSP00000495619.1:p.Ala206= | |
| ENST00000647496.1:c.191C>T | ||
| ENST00000285398.6:c.618C>T | ENSP00000285398.2:p.Ala206= | |
| ENST00000426778.5:c.*599C>T | ENSP00000415335.1:n.*599C>T | |
| ENST00000445889.5:c.*661C>T | ENSP00000390888.1:n.*661C>T | |
| ENST00000456257.1:c.149C>T | ||
| ENST00000460485.1:n.463C>T | ||
| ENST00000462306.5:n.931C>T | ||
| ENST00000494464.5:n.502C>T | ||
| NM_000122.1:c.618C>T , LRG_462t1:c.618C>T | NP_000113.1:p.Ala206= | |
| NM_001303416.1:c.426C>T | NP_001290345.1:p.Ala142= | |
| NM_001303418.1:c.426C>T | NP_001290347.1:p.Ala142= | |
| XM_011510794.1:c.618C>T | XP_011509096.1:p.Ala206= | |
| XM_011510795.1:c.162C>T | XP_011509097.1:p.Ala54= | |
| XM_011510794.2:c.618C>T | XP_011509096.1:p.Ala206= | |
| XM_017003583.1:c.162C>T | XP_016859072.1:p.Ala54= | |
| NM_000122.2:c.618C>T MANE Select | NP_000113.1:p.Ala206= | |
| NM_001303416.2:c.426C>T | NP_001290345.1:p.Ala142= | |
| NM_001303418.2:c.426C>T | NP_001290347.1:p.Ala142= |